E123Q (p.Glu123Gln) variant of TULP1 (Tubby-related protein 1)
E123Q (p.Glu123Gln) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TULP1-related disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E123Q (p.Glu123Gln) variant details
- p.Glu123Gln
- rs758112488
- ClinGen CA3772942
- ClinVar RCV001296852
- ClinVar RCV005512985
- Uncertain significance
- TULP1-related disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (TULP1-related disorder; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)